SERGEF secretion regulating guanine nucleotide exchange factor
Information
- Symbol
- SERGEF
- Type
- protein-coding
- Description
- secretion regulating guanine nucleotide exchange factor
- Entrez Gene ID
- 26297
- Genome
- hg19
- Position
- chr11:17,809,595-18,034,594
- Genome
- hg38
- Position
- chr11:17,788,048-18,013,047
- MIM
- 606051 OMIM
- HGNC
- HGNC:17499 HGNC
- Ensembl
- ENSG00000129158 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 4 |
Uncertain significance | 0 | 50 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
0 |
![]() |
54 |
![]() |
0 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data | : |
MGeND data only
|
Category | : |
|
Search word | : | |
Filtering | : |
Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
|
Category | : |
|
Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
|
Category | : |
|
Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | DELGEF |
SYNONYM | Gnefr |
MIM | 606051 OMIM |
HGNC | HGNC:17499 HGNC |
Ensembl | ENSG00000129158 Ensembl |
AllianceGenome | HGNC:17499 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000265965.10 | hg38 | chr11 | 17,788,048 | 18,013,047 | 225,000 |
ENST00000528200.5 | hg38 | chr11 | 17,788,049 | 18,013,028 | 224,980 |
ENST00000532265.5 | hg38 | chr11 | 17,846,562 | 18,012,953 | 166,392 |
ENST00000265965.10 | hg19 | chr11 | 17,809,595 | 18,034,594 | 225,000 |
ENST00000528200.5 | hg19 | chr11 | 17,809,596 | 18,034,575 | 224,980 |
ENST00000532265.5 | hg19 | chr11 | 17,868,109 | 18,034,500 | 166,392 |
Genome browser